A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25792110



Internal ID19176001
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46092442..46297651hg38UCSC Ensembl
Innerchr17:44169808..44375017hg19UCSC Ensembl
Innerchr17:41525626..41730794hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38205210
hg19205210
hg18205169
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3893022
Supporting Variants
Samples
Known GenesKANSL1, KANSL1-AS1, LOC644172, LRRC37A
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=18
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25792110
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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